All news from Medical Genetics

kidney Disease Gene Affects Populations Than Previously

In the largest population genomics investigation to date, a team of researchers at the Icahn School of Medicine at Mount Sinai, Stanford University, and the University of Colorado have discovered that kidney disease risk variants of the gene APOL1, previously known to affect African and African American populations, are also found at appreciable frequencies in the Caribbean and Latin American people.

Optic-Nerve Commonly Misdiagnosed as Optic Neuritis

NEW YORK (Reuters Health) A variety of errors contributes to the common initial misdiagnosis of optic-nerve-sheath meningioma (ONSM) as optic neuritis, researchers have found. ONSM classically presents as the triad of progressive visual loss, optic atrophy and the presence of retinal-choroidal collaterals, but it is rare that all three findings occur simultaneously.

Study: Heart Cell Defect Cause Heart Failure in Pregnancy

Peripartum cardiomyopathy (PPCM) is a rare form of heart failure that affects women in their last month of pregnancy and up to five months after giving birth. PPCM can be difficult to detect because of its symptoms swelling in the feet and legs and shortness of breath mimic many of those of third-trimester pregnancy. 

Parents Work-Family Affect Children’s Health

Researchers look at how parent's job stress affects children's health. Researchers have long known that their children are affected by the company's bottom line, as employees are distracted or have to take time off to care for their children. Far less is known about the impact to parent's work life has on their children's health.

Drug OD Deaths In 2017 involved opioids

(HealthDay) More than two-thirds of drug overdose deaths in 2017 involved an opioid, with increases in overdose deaths from all opioids and synthetic opioids seen from 2016 to 2017, according to research published in the Dec. 21 issue of the U.S. Centers for Disease Control and Prevention Morbidity and Mortality Weekly Report.

Historic Bill To Cut Maternal Mortality Rate

President Trump has signed a bill aimed at reducing the United States' maternal mortality rate the highest percentage of all developed nations after it passed by unanimous consent in the Senate. In the United States, the maternal mortality rate is 26.4 deaths per 100,000 (about 700 per year). That rate increased 250% between 1987 and 2014, according to the Centers for Disease Control and Prevention (CDC).

Beverage Consumption Associated With Greater KD Risk

Higher collective of sweetened fruit drinks, soda, and water was associated with a higher likelihood of developing chronic kidney disease (CKD) in a community-based study of African-American adults in Mississippi. The findings, which appear in the upcoming issue of the Clinical Journal of the American Society of Nephrology (CJASN), contribute to the growing body of evidence pointing to the negative health consequences of consuming sugar sweetened beverages.

New Strategies to Treat Silent Seizures in Children Identified

As early as 3 months of age, infants with a severe form of epilepsy called Dravet syndrome start having convulsive seizures, during which their arms and legs jerk repeatedly. As they become toddlers, another type of seizure begins to appear. These seizures do not cause obvious convulsions, but disrupt consciousness and can occur more than 50 times every single day.

A challenge to detect and difficult to treat, these non-convulsive seizures often go unnoticed by parents and physicians.  A recent study, published in the journal  Cell Reports , characterizes these silent seizures in a mouse model of Dravet syndrome and identifies the brain area that could be targeted to stop them. 

Study: Cabinet Approves Continuation of Five Umbrella Scheme

The five schemes listed in the proposal are crucial to attaining the goals and objectives laid out in National Health Policy (NHP) 2017, and international commitments in the form of Sustainable Development Goals (SDGs).

The Cabinet Committee on Economic Affairs, chaired by the Prime Minister Narendra Modi, has given its approval for the continuation of five schemes under the "Umbrella Scheme for Family Welfare and Other Health Interventions" during the Fourteenth Finance Commission period 2017-18 to 2019-20 .

Hepatitis C Virus: Molecule Capable of Viral Elimination Synthesized

The compound called GA-Hecate also acts on bacteria, fungi and cancer cells and will be tested against Zika and yellow fever viruses.  A new compound that inhibits the replication of hepatitis C virus (HCV) in several stages of its lifecycle – and is also capable of acting on bacteria, fungi and cancer cells – has been synthesized by researchers. The study was supported by São Paulo Research Foundation – FAPESP via several research projects and described in an article published in  Scientific Reports .